Update on the Genetics of Dystonia-Reference-Cited by-同舟云学术

Update on the Genetics of Dystonia

Published:2017-03 Issue:3 Volume:17 Page:
ISSN:1528-4042
Container-title:Current Neurology and Neuroscience Reports
language:en
Short-container-title:Curr Neurol Neurosci Rep

Author:

Lohmann Katja,Klein Christine

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Neuroscience

Link

http://link.springer.com/content/pdf/10.1007/s11910-017-0735-0.pdf

Reference104 articles.

1. Oppenheim H. Ueber eigenenartige Krampfkrankheit des kindlichen und jugendlichen Alters (Dysbasia lordotica progressiva, Dystonia Musculorum Deformans). Neurol Centrabl. 1911;30:1090.

2. • C. Klein, S. Fahn, Translation of Oppenheim’s 1911 paper on dystonia, Mov Disord 28 (2013) 851-862. This is a translation and commentary of Oppenheim’s landmark paper coining the term dystonia and most likely describing the first cases of generalized dystonia due to mutations in Tor1A (formerly DYT1) and suspecting a genetic etiology.

3. Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov Disord. 2012;27:1789–96.

4. • Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863–73. This is an important paper that revises the definition and classification of dystonia based on a consensus outcome of an international expert panel. The new classification contains two axes: clinical characteristics and etiology. The latter one replaces the terms “primary” and “dystonia-plus” dystonia with “isolated” and “combined” dystonia, respectively.

5. Wang L, Chen Y, Hu B, Hu X. Late-onset primary dystonia in Zhejiang province of China: a service-based epidemiological study. Neurol Sci. 2016;37:111–6.

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